ClinVar Miner

List of variants studied for disorder of plasmalogens biosynthesis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_014236.4(GNPAT):c.1056-20C>A rs114267453 0.00176
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_032228.6(FAR1):c.909T>C (p.Tyr303=) rs2293593 0.00046
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238 0.00010
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys) rs150822308 0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) rs201563848 0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.188+1G>C rs267608254 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_014236.4(GNPAT):c.632G>A (p.Arg211His) rs121434439 0.00001
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>A rs267608254
NM_000288.4(PEX7):c.188+1del
NM_000288.4(PEX7):c.209dup (p.Leu70fs)
NM_000288.4(PEX7):c.259dup (p.Ser87fs)
NM_000288.4(PEX7):c.26del (p.Ala9fs)
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.283T>G (p.Trp95Gly)
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter) rs2115170536
NM_000288.4(PEX7):c.398G>A (p.Trp133Ter)
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.620_623delinsATACAGTCACAATGAGGT (p.Cys207fs)
NM_000288.4(PEX7):c.632del (p.Glu211fs)
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.803+1G>A
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.9_18delinsAGTAGCGGG (p.Cys5fs)
NM_001351132.2(PEX5):c.1182_1183insATCAAACAGATCAAGC (p.Cys395fs)
NM_001351132.2(PEX5):c.1296C>G (p.Tyr432Ter)
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.1488_1510del (p.Val496_Leu497insTer)
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
NM_001351132.2(PEX5):c.420_421inv (p.Trp140_Ser141delinsTer)
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
NM_001351132.2(PEX5):c.967-1G>A
NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)
NM_014236.4(GNPAT):c.1429_1430del (p.Met477fs) rs1571955597
NM_014236.4(GNPAT):c.1483del (p.Leu494_Val495insTer) rs749069446
NM_014236.4(GNPAT):c.1603-3T>G
NM_014236.4(GNPAT):c.925-2del
NM_014236.4(GNPAT):c.954del (p.Glu319fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.